58 research outputs found

    Intelligence, educational attainment, and brain structure in those at familial high-risk for schizophrenia or bipolar disorder

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    First-degree relatives of patients diagnosed with schizophrenia (SZ-FDRs) show similar patterns of brain abnormalities and cognitive alterations to patients, albeit with smaller effect sizes. First-degree relatives of patients diagnosed with bipolar disorder (BD-FDRs) show divergent patterns; on average, intracranial volume is larger compared to controls, and findings on cognitive alterations in BD-FDRs are inconsistent. Here, we performed a meta-analysis of global and regional brain measures (cortical and subcortical), current IQ, and educational attainment in 5,795 individuals (1,103 SZ-FDRs, 867 BD-FDRs, 2,190 controls, 942 schizophrenia patients, 693 bipolar patients) from 36 schizophrenia and/or bipolar disorder family cohorts, with standardized methods. Compared to controls, SZ-FDRs showed a pattern of widespread thinner cortex, while BD-FDRs had widespread larger cortical surface area. IQ was lower in SZ-FDRs (d = −0.42, p = 3 × 10−5), with weak evidence of IQ reductions among BD-FDRs (d = −0.23, p =.045). Both relative groups had similar educational attainment compared to controls. When adjusting for IQ or educational attainment, the group-effects on brain measures changed, albeit modestly. Changes were in the expected direction, with less pronounced brain abnormalities in SZ-FDRs and more pronounced effects in BD-FDRs. To conclude, SZ-FDRs and BD-FDRs show a differential pattern of structural brain abnormalities. In contrast, both had lower IQ scores and similar school achievements compared to controls. Given that brain differences between SZ-FDRs and BD-FDRs remain after adjusting for IQ or educational attainment, we suggest that differential brain developmental processes underlying predisposition for schizophrenia or bipolar disorder are likely independent of general cognitive impairment

    The Association Between Familial Risk and Brain Abnormalities Is Disease Specific: An ENIGMA-Relatives Study of Schizophrenia and Bipolar Disorder

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    Background: Schizophrenia and bipolar disorder share genetic liability, and some structural brain abnormalities are common to both conditions. First-degree relatives of patients with schizophrenia (FDRs-SZ) show similar brain abnormalities to patients, albeit with smaller effect sizes. Imaging findings in first-degree relatives of patients with bipolar disorder (FDRs-BD) have been inconsistent in the past, but recent studies report regionally greater volumes compared with control subjects. Methods: We performed a meta-analysis of global and subcortical brain measures of 6008 individuals (1228 FDRs-SZ, 852 FDRs-BD, 2246 control subjects, 1016 patients with schizophrenia, 666 patients with bipolar disorder) from 34 schizophrenia and/or bipolar disorder family cohorts with standardized methods. Analyses were repeated with a correction for intracranial volume (ICV) and for the presence of any psychopathology in the relatives and control subjects. Results: FDRs-BD had significantly larger ICV (d = +0.16, q <.05 corrected), whereas FDRs-SZ showed smaller thalamic volumes than control subjects (d = −0.12, q <.05 corrected). ICV explained the enlargements in the brain measures in FDRs-BD. In FDRs-SZ, after correction for ICV, total brain, cortical gray matter, cerebral white matter, cerebellar gray and white matter, and thalamus volumes were significantly smaller; the cortex was thinner (d < −0.09, q <.05 corrected); and third ventricle was larger (d = +0.15, q <.05 corrected). The findings were not explained by psychopathology in the relatives or control subjects. Conclusions: Despite shared genetic liability, FDRs-SZ and FDRs-BD show a differential pattern of structural brain abnormalities, specifically a divergent effect in ICV. This may imply that the neurodevelopmental trajectories leading to brain anomalies in schizophrenia or bipolar disorder are distinct

    Reachthem: Baseline Characteristics of a 3 Year Prospective Registry of Children with Hemoglobinopathies Receiving Oral Iron Chelators in the Treatment of Transfusional Iron Overload

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    54th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH) -- DEC 08-11, 2012 -- Atlanta, GAWOS: 000314049605419…Amer Soc Hematol (ASH

    Unilateral multicystic dysplastic kidney: single-center experience

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    Multicystic dysplastic kidney (MCDK) is one of the most common renal abnormalities in children. The aim of our study was to evaluate the clinical course and outcome of patients with MCDK. Ninety pediatric patients with unilateral MCDK followed by the Pediatric Nephrology Department of Bakirkoy Maternity and Children's Hospital between 1990 and 2007 were included in this retrospective study. The dimercaptosuccinic acid radionuclide scan revealed no function in MCDK in all of our patients. Voiding cystourethrogram was performed in all patients. Twenty patients (22.2%) had abnormalities in the contralateral kidney. Nephrectomy was performed in 41 patients (45.5%). Twelve patients had undergone routine nephrectomy before 1996. Since then, patients have been followed up conservatively, and nephrectomy has been performed only when indicated. Indication of nephrectomy was arterial hypertension in 16 patients (23.1%), recurrent urinary tract infection (UTI) in 11 (15.9%), and severe abdominal pain in two (2.8%). Hypertension was noted within the first year of life in all patients except two. MCDK completely involuted in 39.3% within 48 months. There was no malignant transformation, proteinuria, or renal failure. In conclusion, hypertension is often noticed in infants with MCDK. Uninephrectomy leads to normalization. However, prospective studies are needed to exclude a spontaneous improvement of hypertension

    Çocukluk Çağı Kanserlerinden Sonra Gelişen Hepatik Fokal Noduler Hiperplazi: Türkiye’den İki Merkezin Deneyimi

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    Fokal noduler hiperplazi (FNH), çocuklarda karaciğerin nadir görülen lezyonlarından olmasına rağmen, tedavi edilmiş çocuk kanser hastalarında artmış oranlarda bildirilmeye başlanmıştır. Bu retrospektif çalışmanın amacı, çocukluk çağı primer malinitesinden sonra, FNH tanısı alan hastaların klinik ve radyolojik karakteristiklerini ve klinik gidişini tanımlamaktır. Kanuni Sultan Eğitim ve Araştırma Hastanesi ve İstanbul Üniversitesi, Onkoloji Enstitüsü Pediatrik Hematoloji-Onkoloji Bilim Dalında, pediatrik kanser tedavisinden sonra, FNH tanısı alan 8 hastanın tanısal tetkikleri, radyolojik bulguları, klinik gidiş ve sonuçları retrospektif olarak değerlendirildi. FNH lezyonları, 1600 solid tümörlü hastanın 8’inde (0.5%), primer kanser için kullanılan antineoplastik tedavinin sonlandırılmasından 8 yıl (2-18) sonra tanımlandı. Beş hasta nöroblastom, 2 hasta rabdomyosarkom, 1 hasta da primitif neuroektodermal tumor nedeniyle tedavi edilmişti. FNH lezyonları, rastlantısal olarak, USG veya MRI ile rutin izlem sırasında saptandı. İki hastaya karaciğer metastazlarını ekarte etmek için, biyopsi uygulandı. Lezyonlar 12 aylık (3-108 ay) izlemleri sırasında stabil kaldı, maliniteye dönüşüm saptanmadı. FNH lezyonlarına, radyolojik olarak hematopoetik kök hücre nakli yapılmayan maliniteli çocuk hastalarda da rastlabilinir ve bu lezyonlar karaciğer metastazı olarak yanlış tanı alabilir. FNH, kanserli çocukların izleminde karşılaşılan karaciğer lezyonlarının ayırıcı tanısında düşünülmelidir. Bu iyi huylu lezyonların radyolojik olarak tanısından sonra, biyopsi yapılmadan yakın görüntüleme ile izlem önermekteyiz.Even though Focal nodular hyperplasia (FNH) is a rare lesion of the liver in children, it is reported at increased rates in treated pediatric cancer patients. The aim of this retrospective study is to describe the clinical and radiological characteristics and clinical course of patients diagnosed as FNH after primary malignancy in childhood. We retrospectively evaluated the diagnostic work-up, radiologic findings, clinical course and outcome of 8 patients, diagnosed as FNH after pediatric cancer treatment at the Department of Pediatric HematologyOncology of the Kanuni Sultan Suleyman Training and Research Hospital and Istanbul University, Oncology Institute, between 1993 and 2011. FNH lesions were diagnosed in 8 of 1600 solid tumors (0.5%) after a median interval of 8 (2-18) years, from the termination of the antineoplastic therapy for the primary cancer. Five patients had a history of neuroblastoma and two patients had rhabdomyosarcoma and one of them had primitive neuroectodermal tumor. FNH was incidentally found at USG or MRI performed during routine follow-up. Two children underwent surgical biopsies to rule out liver metastases. The lesions were stable for a median of 12 months (3-108 months) followup, no malign transformation was detected. FNH may be encountered as a radiological finding during follow-up in pediatric malignancies without hematopoetic stem cell transplantation and may be misdiagnosed as liver metastasis. FNH should be considered in the differential diagnosis of liver lesions encountered during follow up children with cancer. After the diagnosis of these benign lesions radiologically without biopsy, close imaging follow-up is recommended

    Assessment of diastolic function in children and adolescents with beta-thalassemia major by tissue Doppler imaging

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    Aim: The purpose of this study was to analyze myocardial diastolic function in patients with beta-thalassemia major before development of overt cardiomyopathy using pulsed wave tissue Doppler imaging, and compare data with conventional Doppler echocardiography
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